ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.855G>A (p.Glu285=)

gnomAD frequency: 0.00001  dbSNP: rs769504650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000955142 SCV001101830 likely benign MPI-congenital disorder of glycosylation 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000955142 SCV001454931 uncertain significance MPI-congenital disorder of glycosylation 2020-03-17 no assertion criteria provided clinical testing

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